MULTICENTER INVESTIGATION OF GENETIC MODIFIER IN CF LUNG OR LIVER DISEASE STUDY

点击翻译按钮获取中文摘要

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Patients with cystic fibrosis (CF) display a wide range of disease severity, particularly in pulmonary phenotype. Although some of this variability can be attributed to specific mutations within the CFTR gene (allelic heterogeneity), much of this variability has not been adequately explained. Evidence is accumulating that phenotypic heterogeneity associated with many inherited disorders is due in substantial part to the influence of other genes at one or more unlinked loci in the human genome. The short-term goal of this protocol is to establish the capability to test non-CFTR candidate gene allelels that may play important roles in the pathogenesis and severity of CF lung disease. The long-term goal is to identify genes that have important modifying effects on CF lung disease, which will define new therapeutic targets.